Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (Q28646237)

3 February 2017

title

Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy (English)

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3 February 2017

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J. Loeffen

1

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3 February 2017

O. Elpeleg

2

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3 February 2017

J. Smeitink

3

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3 February 2017

R. Smeets

4

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3 February 2017

S. Stöckler-Ipsiroglu

5

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3 February 2017

H. Mandel

6

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3 February 2017

R. Sengers

7

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3 February 2017

F. Trijbels

8

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3 February 2017

L. van den Heuvel

9

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3 February 2017

publication date

1 February 2001

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3 February 2017

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3 February 2017

volume

49

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3 February 2017

issue

2

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3 February 2017

page(s)

195–201

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Maternal inheritance and the evaluation of oxidative phosphorylation diseases

3 February 2017

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Leigh syndrome: clinical features and biochemical and DNA abnormalities.

21 January 2018

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NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings

21 January 2018

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Respiratory chain complex I deficiency: an underdiagnosed energy generation disorder

21 January 2018

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Isolated complex I deficiency in children: clinical, biochemical and genetic aspects

21 January 2018

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URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit

21 January 2018

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Human mitochondrial complex I in health and disease

21 January 2018

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Estimation of NADH oxidation in human skeletal muscle mitochondria.

21 January 2018

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Estimation of pyruvate dehydrogenase (E1) activity in human skeletal muscle; three cases with E1 deficiency.

21 January 2018

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Hereditary tyrosinemia type 1: novel missense, nonsense and splice consensus mutations in the human fumarylacetoacetate hydrolase gene; variability of the genotype-phenotype relationship

21 January 2018

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cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed

21 January 2018

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Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy

21 January 2018

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Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

21 January 2018

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Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

21 January 2018

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

21 January 2018

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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

21 January 2018

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Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I.

21 January 2018

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SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

21 January 2018

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Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency

21 January 2018

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SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.

21 January 2018

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

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Three-dimensional structure of NADH-dehydrogenase from Neurospora crassa by electron microscopy and conical tilt reconstruction

21 January 2018

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The 49-kDa subunit of NADH-ubiquinone oxidoreductase (Complex I) is involved in the binding of piericidin and rotenone, two quinone-related inhibitors

21 January 2018

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Three classes of inhibitors share a common binding domain in mitochondrial complex I (NADH:ubiquinone oxidoreductase).

21 January 2018

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Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules

21 January 2018

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10.1002/1531-8249(20010201)49:2<195::AID-ANA39>3.0.CO;2-M

21 January 2018

Identifiers

DOI

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